Search Results - "Trofatter, James A"

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification by Church, Deanna M, Stotler, Christy J, Rutter, Joni L, Murrell, Jill R, Trofatter, James A, Buckler, Alan J

“…Modifications to exon amplification have been instituted that increase its speed, efficiency and reliability. Exons were isolated from target human or mouse…”
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Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 by Rouleau, Guy A, Wertelecki, Wladimir, Haines, Jonathan L, Hobbs, Wendy J, Trofatter, James A, Seizinger, Bernd R, Martuza, Robert L, Superneau, Duane W, Conneally, P. Michael, Gusella, James F

“…Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including…”
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A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy by DELISLE, M.-B, MURRELL, J. R, RICHARDSON, R, TROFATTER, J. A, RASCOL, O, SOULAGES, X, MOHR, M, CALVAS, P, GHETTI, B

“…Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a…”
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Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types by Gusella, James F, Ramesh, Vijaya, Menon, Anil G, Morin, Francine, Hara, Tetsuo, Bianchi, Albert B, Klein-Szanto, Andrés J. P, Gao, Jizong, Trofatter, James A, Kley, Nikolai, Seizinger, Bernd R

“…The neurofibromatosis 2 gene (NF2) has recently been isolated and predicted to encode a novel protein related to the moesin-ezrin-radixin family of…”
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Exon scanning for mutation of the NF2 gene in schwannomas by Jacoby, L B, MacCollin, M, Louis, D N, Mohney, T, Rubio, M P, Pulaski, K, Trofatter, J A, Kley, N, Seizinger, B, Ramesh, V

“…Family studies and tumor analyses have combined to indicate that neurofibromatosis 2 (NF2), a disorder characterized by multiple benign tumors of the nervous…”
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A single copy of carbonic anhydrase 2 restores wild-type circadian period to carbonic anhydrase II-deficient mice by Kernek, Kari L, Trofatter, James A, Mayeda, Aimee R, Lahiri, Debomoy K, Hofstetter, John R

“…Carbonic anhydrase II (CA-II)-deficient mice have long circadian periods compared to their siblings with normal CA-II levels. The CA-II-deficient mice differ…”
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Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene by FONTAINE, B, KHURANA, T. S, ROMANO, D, GUSELLA, J. F, BROWN, R. H, HOFFMAN, E. P, BRUNS, G. A. P, HAINES, J. L, TROFATTER, J. A, HANSON, M. P, RICH, J, MCFARLANE, H, YASEK, D. M

“…Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell…”
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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis by Blumenfeld, Anat, Slaugenhaupt, Susan A, Axelrod, Felicia B, Lucente, Diane E, Maayan, Channa, Liebert, Christopher B, Ozelius, Laurie J, Trofatter, James A, Haines, Jonathan L, Breakefield, Xandra O, Gusella, James F

“…Familial dysautonomia (DYS), the Riley-Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and…”
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A locus for circadian period of locomotor activity on mouse proximal chromosome 3 by Kernek, Kari L, Trofatter, James A, Mayeda, Aimee R, Hofstetter, John R

“…Lengthened circadian period of locomotor activity is a characteristic of a congenic strain of mice carrying a nonsense mutation in exon 5 of the carbonic…”
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A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor by Trofatter, J A, MacCollin, M M, Rutter, J L, Murrell, J R, Duyao, M P, Parry, D M, Eldridge, R, Kley, N, Menon, A G, Pulaski, K

“…Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence of bilateral vestibular schwannomas and other central nervous…”
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Suicide risk in Huntington's disease by Di Maio, L, Squitieri, F, Napolitano, G, Campanella, G, Trofatter, J A, Conneally, P M

“…In order to evaluate the relevance of suicide risk in families affected by Huntington's disease (HD), 2793 subjects registered with the National Huntington's…”
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Mutational analysis of patients with neurofibromatosis 2 by MACCOLLIN, M, VIJAYA RAMESH, PARRY, D. M, GUSELLA, J. F, JACOBY, L. B, LOUIS, D. N, RUBIO, M.-P, PULASKI, K, TROFATTER, J. A, SHORT, M. P, BOVE, C, ELDRIDGE, R

“…Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has…”
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The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms by Haase, V H, Trofatter, J A, MacCollin, M, Tarttelin, E, Gusella, J F, Ramesh, V

“…The recently isolated gene for neurofibromatosis type 2 (NF2) encodes a 595 amino acid protein, named merlin, which is related to the cytoskeleton-associated…”
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Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant by Trofatter, James A., Dlouhy, Stephen R., DeMyer, William, Conneally, P. Michael, Hodes, M. E.

“…Pelizaeus-Merzbacher disease (PMD) is a human X chromosome-linked dysmyelination disorder of the central nervous system for which the genetic defect has not…”
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An expression-independent catalog of genes from human chromosome 22 by Trofatter, J A, Long, K R, Murrell, J R, Stotler, C J, Gusella, J F, Buckler, A J

“…To accomplish large-scale identification of genes from a single human chromosome, exon amplification was applied to large pools of clones from a flow-sorted…”
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Cloning and Characterization of a Novel Human Clathrin Heavy Chain Gene (CLTCL) by Long, Kimberly R., Trofatter, James A., Ramesh, Vijaya, McCormick, Mary Kay, Buckler, Alan J.

“…An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome…”
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Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity by Farrar, G J, McWilliam, P, Bradley, D G, Kenna, P, Lawler, M, Sharp, E M, Humphries, M M, Eiberg, H, Conneally, P M, Trofatter, J A

“…Retinitis pigmentosa (RP) is the most prevalent human retinopathy of genetic origin. Chromosomal locations for X-linked RP and autosomal dominant RP genes have…”
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Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism by Ozelius, L, Hsu, Y P, Bruns, G, Powell, J F, Chen, S, Weyler, W, Utterback, M, Zucker, D, Haines, J, Trofatter, J A

“…An essentially full-length cDNA clone for the human enzyme monoamine oxidase type A (MAO-A) has been used to determine the chromosomal location of a gene…”
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A genetic linkage map of the long arm of human chromosome 22 by Rouleau, G A, Haines, J L, Bazanowski, A, Colella-Crowley, A, Trofatter, J A, Wexler, N S, Conneally, P M, Gusella, J F

“…We have used a recombinant phage library enriched for chromosome 22 sequences to isolate and characterize eight anonymous DNA probes detecting restriction…”
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Myelin Protein Zero Gene Mutated in Charcot-Marie-Tooth Type 1B Patients by Su, Ying, Brooks, David G., Li, Lanying, Lepercq, Jacques, Trofatter, James A., Ravetch, Jeffrey V., Lebo, Roger V.

“…Autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this…”
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